Incidental Mutation 'R6028:Doc2b'
ID480193
Institutional Source Beutler Lab
Gene Symbol Doc2b
Ensembl Gene ENSMUSG00000020848
Gene Namedouble C2, beta
Synonyms
MMRRC Submission 044200-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #R6028 (G1)
Quality Score225.009
Status Validated
Chromosome11
Chromosomal Location75768966-75796049 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 75772586 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 347 (A347S)
Ref Sequence ENSEMBL: ENSMUSP00000021209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021209]
Predicted Effect probably benign
Transcript: ENSMUST00000021209
AA Change: A347S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000021209
Gene: ENSMUSG00000020848
AA Change: A347S

DomainStartEndE-ValueType
Blast:C2 9 38 8e-8 BLAST
low complexity region 41 77 N/A INTRINSIC
low complexity region 91 110 N/A INTRINSIC
C2 142 247 4.69e-21 SMART
C2 282 396 4.69e-21 SMART
Meta Mutation Damage Score 0.0647 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: The protein encoded by this gene is a calcium sensor involved in glucose-stimulated insulin secretion, spontaneous neurotransmitter release, and enhanced SNARE-dependent vesicle fusion. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduced frequency of spontaneous neurotransmitter release events with cerebellar Purkinje cells showing continuous spiking without interruption. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T A 3: 36,479,569 probably null Het
Acat1 A T 9: 53,592,066 Y158N probably damaging Het
Adamtsl1 C A 4: 86,342,324 A924E probably damaging Het
Adck1 A T 12: 88,402,132 M127L probably benign Het
Afg3l2 G T 18: 67,421,259 L458M probably damaging Het
Alad G T 4: 62,510,122 T305K probably benign Het
Ankrd33 T C 15: 101,119,072 F65S probably damaging Het
Ap3d1 T C 10: 80,722,927 N281S possibly damaging Het
Arhgap30 A G 1: 171,408,320 D754G probably benign Het
Asah2 T C 19: 32,016,514 D438G probably damaging Het
Cachd1 C A 4: 100,983,556 N905K probably damaging Het
Cdh23 G T 10: 60,534,535 D160E probably damaging Het
Cntln T A 4: 84,971,173 S298T probably benign Het
Dnah5 T A 15: 28,387,833 M3146K probably damaging Het
Eps8l2 T C 7: 141,357,833 F422S possibly damaging Het
Esm1 A G 13: 113,216,667 N161S possibly damaging Het
Fbxw10 C T 11: 62,873,519 Q671* probably null Het
Fnbp4 C A 2: 90,751,134 T177K probably benign Het
Gm11639 T C 11: 104,769,655 probably null Het
Gm6803 A T 12: 88,018,361 D137E possibly damaging Het
Gpr137c C A 14: 45,277,481 Q266K probably damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,997,940 probably benign Het
Hk1 C A 10: 62,353,058 K25N probably null Het
Klhl29 G T 12: 5,090,995 Y616* probably null Het
Lman1l A G 9: 57,608,263 I443T probably damaging Het
Lmnb1 T G 18: 56,743,276 Y485* probably null Het
Lrrc63 A G 14: 75,086,174 S537P possibly damaging Het
Ltbp2 T A 12: 84,784,852 N1686I probably damaging Het
Map9 T A 3: 82,380,248 probably null Het
Marco T A 1: 120,490,942 Q194L probably damaging Het
Mc3r A T 2: 172,249,209 D117V probably damaging Het
Meltf T A 16: 31,887,476 D259E possibly damaging Het
Mical1 A T 10: 41,486,877 M973L probably benign Het
Mmp21 T C 7: 133,678,714 T176A probably benign Het
Mterf1b T A 5: 4,197,666 probably null Het
Muc16 G A 9: 18,657,176 S1349F unknown Het
Nacc2 A G 2: 26,061,578 V415A probably damaging Het
Ncl A G 1: 86,356,133 V322A probably benign Het
Neb G A 2: 52,193,231 T1639I probably damaging Het
Nfia A G 4: 98,111,251 H485R possibly damaging Het
Nlrp9a C T 7: 26,558,337 T460I probably benign Het
Olfr1079 T A 2: 86,538,769 I49F possibly damaging Het
Olfr938 T A 9: 39,078,083 I221F probably damaging Het
Patl2 T A 2: 122,126,137 Q158L possibly damaging Het
Pja2 T C 17: 64,309,090 D270G probably benign Het
Pkd1l1 T C 11: 8,836,267 H1929R probably benign Het
Plekhh3 A T 11: 101,166,570 M287K probably damaging Het
Polb G T 8: 22,639,995 S187* probably null Het
Popdc3 A G 10: 45,317,919 D272G probably benign Het
Prkar2b A T 12: 31,993,758 D121E possibly damaging Het
Psmd3 T A 11: 98,685,665 L131Q probably damaging Het
Ptcd3 A T 6: 71,898,408 C197S probably damaging Het
Ptprf A T 4: 118,213,629 V1391D probably benign Het
Purb A G 11: 6,475,150 F246S probably damaging Het
Rgs8 C A 1: 153,690,988 T95N probably damaging Het
Slc2a13 T C 15: 91,276,116 N545S probably damaging Het
Smpd2 A G 10: 41,489,348 W51R probably damaging Het
Srgap1 T C 10: 121,828,730 Q490R probably null Het
Strbp G A 2: 37,625,255 T253I probably damaging Het
Sult1d1 A T 5: 87,559,826 M145K probably damaging Het
Taf5l A C 8: 124,002,975 probably null Het
Tas2r131 T G 6: 132,957,676 I57L probably benign Het
Tcf25 A G 8: 123,381,437 N77S possibly damaging Het
Tmem253 A G 14: 52,017,811 T57A possibly damaging Het
Tspan17 A G 13: 54,793,298 N130S probably damaging Het
Utrn T C 10: 12,654,716 S2118G probably benign Het
Vmn2r3 T A 3: 64,275,277 T334S probably benign Het
Wnk2 G T 13: 49,076,345 A901E probably damaging Het
Zc3hav1 T C 6: 38,307,340 T947A probably benign Het
Zfhx3 C T 8: 108,793,503 P419L probably damaging Het
Zfp292 A G 4: 34,819,549 S258P probably damaging Het
Zfp964 A G 8: 69,663,913 T388A unknown Het
Other mutations in Doc2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0241:Doc2b UTSW 11 75772561 missense probably damaging 1.00
R0241:Doc2b UTSW 11 75772561 missense probably damaging 1.00
R0567:Doc2b UTSW 11 75780124 missense probably damaging 1.00
R1430:Doc2b UTSW 11 75780155 missense possibly damaging 0.80
R1539:Doc2b UTSW 11 75771957 missense probably damaging 1.00
R5109:Doc2b UTSW 11 75777141 missense probably benign 0.00
R5260:Doc2b UTSW 11 75786163 missense probably damaging 1.00
R5443:Doc2b UTSW 11 75780095 missense probably damaging 1.00
R5605:Doc2b UTSW 11 75771960 missense probably damaging 0.99
R5789:Doc2b UTSW 11 75786115 missense probably damaging 1.00
R5805:Doc2b UTSW 11 75772538 missense probably damaging 1.00
R6146:Doc2b UTSW 11 75773595 missense probably damaging 1.00
R6295:Doc2b UTSW 11 75780267 missense probably damaging 0.99
R6295:Doc2b UTSW 11 75795625 missense probably benign 0.09
R6568:Doc2b UTSW 11 75776994 splice site probably null
Z1176:Doc2b UTSW 11 75777072 missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- ACAGATGCTGTGAGGTCTCC -3'
(R):5'- TAAGACAGTTCATCGCAGCC -3'

Sequencing Primer
(F):5'- GGGCCTCTCTTCTGTCACATG -3'
(R):5'- AGCATCTGGGAGCAGCTTG -3'
Posted On2017-06-26